Publications by authors named "Nathalie Goemans"
This study investigated if structural variation in specific gray matter areas is associated with corticosteroid treatment or genotype, and if cerebral morphological variations are related to neuropsychological and behavioral outcomes. The CAT12 toolbox in SPM was used for MRI segmentations, assessing subcortical structures, cortical thickness, gyrification, and sulci depths for DMD patients (n = 40; 9-18 years) and age-matched controls (n = 40). Comparisons were made between DMD vs.
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- Project HERCULES created a detailed natural history model for Duchenne muscular dystrophy (DMD) that outlines eight health states, including varying levels of ambulatory and non-ambulatory conditions.
- The study analyzed data from 1,173 DMD patients, revealing that older age correlates with worse motor, pulmonary, and cardiac functionalities as patients progress through the health states.
- Key metrics like the North Star Ambulatory Assessment (NSAA) score and forced vital capacity (FVC) indicate significant declines in function from the early ambulatory state to advanced stages, emphasizing the need for improved economic modeling and decision-making in DMD treatment.
Background: Boys with Duchenne Muscular Dystrophy (DMD) experience both fine and gross motor problems. Nowadays, early intervention focuses almost exclusively on gross motor skills.
Aims: We aimed to explore early motor development in preschool boys with DMD and investigate the influence of cognition.
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene. Deficiency of the dystrophin protein causes not only motor, but also cognitive, language, behavioural and social emotional problems. This is the first systematic review investigating five early developmental domains in boys with DMD between 0 and 6 years old.
View Article and Find Full Text PDFEvaluations of treatment efficacy in Duchenne muscular dystrophy (DMD), a rare genetic disease that results in progressive muscle wasting, require an understanding of the 'meaningfulness' of changes in functional measures. We estimated the minimal detectable change (MDC) for selected motor function measures in ambulatory DMD, i.e.
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- This study analyzed the functional changes in children and adolescents with Duchenne muscular dystrophy (DMD) as they transition from being able to walk to losing that ability (loss of ambulation, or LoA) to improve clinical trial designs for new treatments.
- It included 51 participants aged 7 to 18 and assessed metrics like pulmonary function and upper limb performance before and after LoA, noting that significant declines often occurred before losing ambulation.
- The findings suggest that clinical trials could include patients showing early signs of decline in function, and that a varied sequence of functional loss among patients indicates the need for more comprehensive methods to evaluate treatment effectiveness.
Classifying gait patterns into homogeneous groups could enhance communication among healthcare providers, clinical decision making and clinical trial designs in boys with Duchenne muscular dystrophy (DMD). Sutherland's classification has been developed 40 years ago. Ever since, the state-of-the-art medical care has improved and boys with DMD are now longer ambulatory.
View Article and Find Full Text PDFBackground: Patients with Duchenne muscular dystrophy (DMD) face a higher risk of neurobehavioral problems, yet an international consensus on screening, assessing, and managing these difficulties is lacking.
Objective: This report introduces the term Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND) to comprehensively cover the spectrum of neurobehavioral issues in DMD patients, including behavior, psychiatric disorders, and various cognitive, academic, and psychosocial deficits. To facilitate screening, the DuMAND Checklist, a 43-item tool with five subscales, was developed.
Background: Emerging evidence underscores the high prevalence of neurobehavioral difficulties like ADHD, ASD and OCD, in patients with Duchenne muscular dystrophy (DMD). The substantial impact of these complex behavioral challenges in addition to motor function decline on the well-being of affected individuals and their families is increasingly evident. However, a uniform approach for effective screening, assessment and management of the neurobehavioral symptoms remains elusive.
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- Duchenne muscular dystrophy (DMD) is a serious genetic disorder caused by a lack of dystrophin, and the study explores the potential of givinostat, a histone deacetylase inhibitor, to improve outcomes for affected children.* -
- Conducted as a phase 3, double-blind, placebo-controlled trial across 41 sites in 11 countries, researchers tested the safety and efficacy of givinostat in boys aged 6 and older who were already on corticosteroid treatment.* -
- The primary goal was to assess the four-stair climb performance after 72 weeks of treatment, comparing changes between those given givinostat and the placebo, while monitoring safety throughout the study.*
Article Synopsis
- Vamorolone, a glucocorticoid receptor agonist, was tested to assess its effectiveness and safety over 48 weeks compared to prednisone in children with Duchenne muscular dystrophy (DMD).
- A double-blind clinical trial involved 121 participants aged 4 to under 7 years, receiving varying doses of vamorolone and prednisone, with improvements monitored in motor skills and growth.
- Results indicated that vamorolone (6 mg/kg/day) maintained motor skill improvements over 48 weeks, with significant growth benefits seen after participants switched from prednisone to vamorolone.
Clinical trials provide Duchenne muscular dystrophy (DMD) patients access to medication. Nevertheless, such involvement can impose certain burdens, as the protocol may entail strict adherence and additional demands. This study assessed the psychosocial functioning and quality of life in boys with DMD and their parents who participate in clinical trials.
View Article and Find Full Text PDFThere are multiple avenues for therapeutic development in Duchenne muscular dystrophy (DMD), which are highlighted in the first section of this report for the "10 years of Clinical trials in DMD - What have we learned?" workshop. This report then provides an overview of the presentations made at the workshop grouped into the following core themes: trial outcomes, disease heterogeneity, meaningfulness of outcomes and the utility of real-world data in trials. Finally, we present the consensus that was achieved at the workshop on the learning points from 10 years of clinical trials in DMD, and possible action points from these.
View Article and Find Full Text PDFAim: To investigate functional motor performance in a large cohort of young steroid-naïve males with Duchenne muscular dystrophy (DMD) and typically developing males, and to develop specific reference curves for both groups. Also, to describe associations between anthropometric values and functional motor outcomes.
Method: Cross-sectional data of 196 steroid-naïve males with DMD aged 4 to 8 years and 497 typically developing males aged 2 years 6 months to 8 years were included.
Objective: Duchenne muscular dystrophy (DMD) is a neuromuscular disorder in which many patients also have neurobehavioral problems. Corticosteroids, the primary pharmacological treatment for DMD, have been shown to affect brain morphology in other conditions, but data in DMD are lacking. This study aimed to investigate the impact of two corticosteroid regimens on brain volumetrics in DMD using magnetic resonance imaging (MRI).
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- Duchenne muscular dystrophy (DMD) patients often face neurobehavioral issues, but treatment options are limited.
- A study involving 52 male patients (average age 11) assessed the effects of psychopharmaceuticals, revealing improvements in symptoms for many, with methylphenidate showing the most significant results.
- Despite some minimal side effects, the study highlights a need for more research to better understand the effective treatment of neurobehavioral problems in DMD patients.
Article Synopsis
- - Risdiplam is an oral medication approved for treating spinal muscular atrophy (SMA) that modifies pre-mRNA splicing of the SMN2 gene, showing significant efficacy in a Phase 3 trial (SUNFISH) for type 2 and non-ambulant type 3 SMA.
- - After 24 months of treatment, 32% of patients improved their motor function scores while 58% maintained their scores compared to baseline, with significant differences noted when compared to external controls.
- - The safety profile after 24 months was consistent with earlier evaluations, indicating that long-term treatment with risdiplam continued to support benefits in motor function for SMA patients.
Article Synopsis
- Clinical trials for Duchenne muscular dystrophy (DMD) typically use genotype-matched controls, which complicates patient enrollment due to this rare disease's limited pool.
- The study analyzed over 1,600 patient-years from multiple sources to understand the impact of different genotype classes on motor function changes over a year.
- Results indicated that genotype only accounted for about 2% of variation in motor function outcomes, suggesting that utilizing unmatched controls in trials could be a viable option.
Background: Evidence on the long-term efficacy of steroids in Duchenne muscular dystrophy (DMD) after loss of ambulation is limited.
Objective: Characterize and compare disease progression by steroid treatment (prednisone, deflazacort, or no steroids) among non-ambulatory boys with DMD.
Methods: Disease progression was measured by functional status (Performance of Upper Limb Module for DMD 1.
The aim of this study was to determine the clinimetric properties, i.e., reliability, validity and responsiveness of an instrumented strength assessment in typically developing (TD) children and children with cerebral palsy (CP) and Duchenne muscular dystrophy (DMD).
View Article and Find Full Text PDFBackground: Neuromuscular disorders (NMD) are intrusive medical conditions with implications for psychosocial development.
Objectives: This paper explores illness perceptions and illness identity dimensions of youth with NMD. First, we compare illness identity outcomes and illness perceptions of NMD patients with a comparison group of adolescents with type 1 diabetes mellitus (DM).
Article Synopsis
- Long-term use of corticosteroidal anti-inflammatory drugs can negatively impact patient quality of life, highlighting the need for safer alternatives.
- The study tested vamorolone, a new type of dissociative steroid, for its effectiveness and safety in boys aged 4 to under 7 with Duchenne muscular dystrophy (DMD) over a 24-week period.
- Results showed that vamorolone (6 mg/kg) significantly improved motor function compared to placebo, while the safety profile was potentially better than traditional corticosteroids.
Duchenne muscular dystrophy is an X-linked disease caused by the absence of functional dystrophin in the muscle cells. Major advances have led to the development of gene therapies, tools that induce exon skipping, and other therapeutic approaches, including treatments targeting molecular pathways downstream of the absence of functional dystrophin. However, glucocorticoids remain the only treatment unequivocally shown to slow disease progression, despite the adverse effects associated with their long-term use.
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